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Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids (vol 13, 26, 2025) Athanasiou, D; Afanasyeva, TAV; Chai, NZ; Ziaka, K; Jovanovic, K; Guarascio, R; Boldt, K; Corral-Serrano, JC; Kanuga, N; Roepman, R; Collin, RWJ; Cheetham, ME Share Save
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Corral-Serrano, Julio C.; Vaclavik, Veronika; van de Sompele, Stijn; Kaminska, Karolina; Jovanovic, Katarina; Escher, Pascal; van den Broeck, Filip; Cancellieri, Francesca; Toulis, Vasileios; Leroy, Bart P.; de Zaeytijd, Julie; You, Zhixuan; Ottaviani, Daniele; Quinodoz, Mathieu; Bordeanu, Gabriela; Hardcastle, Alison J.; Coppieters, Frauke; Tran, Viet H.; Cheetham, Michael E.; Rivolta, Carlo; De Baere, Elfride Share Save
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells Whitehead, Michael; Harvey, Joshua P.; Sladen, Paul E.; Becchi, Giada; Singh, Kritarth; Sun, Yujiao Jennifer; Burgoyne, Thomas; Duchen, Michael R.; Yu-Wai-Man, Patrick; Cheetham, Michael E. Share Save
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids Athanasiou, Dimitra; Afanasyeva, Tess A. V.; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C.; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W. J.; Cheetham, Michael E. Share Save
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 Gardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J. Share Save
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping Zarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E. Share Save
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant Braddock, Freddie L.; Gardner, Jessica C.; Bhattacharyya, Nihar; Sanchez-Pintado, Beatriz; Costa, Marcos; Zarouchlioti, Christina; Szabo, Anita; Liskova, Petra; Cheetham, Michael E.; Young, Robert D.; Thaung, Caroline; Davidson, Alice E.; Tuft, Stephen J.; Hardcastle, Alison J. Share Save
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease Bhattacharyya, Nihar; Chai, Niuzheng; Hafford-Tear, Nathaniel J.; Sadan, Amanda N.; Szabo, Anita; Zarouchlioti, Christina; Jedlickova, Jana; Leung, Szi Kay; Liao, Tianyi; Dudakova, Lubica; Skalicka, Pavlina; Parekh, Mohit; Moghul, Ismail; Jeffries, Aaron R.; Cheetham, Michael E.; Muthusamy, Kirithika; Hardcastle, Alison J.; Pontikos, Nikolas; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E. Share Save
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers Georgiou, Michalis; Robson, Anthony G.; Uwaydat, Sami H.; Ji, Marco H.; Shakarchi, Ahmed F.; Pontikos, Nikolas; Mahroo, Omar A.; Cheetham, Michael E.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel Share Save
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4 Suarez-Herrera, Nuria; Riswick, Iris B.; Vazquez-Dominguez, Irene; Duijkers, Lonneke; Karjosukarso, Dyah W.; Piccolo, Davide; Bauwens, Miriam; De Baere, Elfride; Cheetham, Michael E.; Garanto, Alejandro; Collin, Rob W. J. Share Save
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RP2-Associated X-linked Retinopathy Clinical Findings, Molecular Genetics, and Natural History Georgiou, Michalis; Robson, Anthony G.; Jovanovic, Katarina; Guimaraes, Thales A. C. de; Ali, Naser; Pontikos, Nikolas; Uwaydat, Sami H.; Mahroo, Omar A.; Cheetham, Michael E.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel Share Save
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C Kaltak, Melita; de Bruijn, Petra; Piccolo, Davide; Lee, Sang-Eun; Dulla, Kalyan; Hoogenboezem, Thomas; Beumer, Wouter; Webster, Andrew R.; Collin, Rob W. J.; Cheetham, Michael E.; Platenburg, Gerard; Swildens, Jim Share Save
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis Leung, Amy; Sacristan-Reviriego, Almudena; Perdigao, Pedro R. L.; Sai, Hali; Georgiou, Michalis; Kalitzeos, Angelos; Carr, Amanda -Jayne F.; Coffey, Peter J.; Michaelides, Michel; Bainbridge, James; Cheetham, Michael E.; Spuy, Jacqueline van der Share Save
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies Varela, Malena Daich; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M.; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P. N.; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E.; Michaelides, Michel; Mahroo, Omar A.; Moore, Anthony T.; Webster, Andrew R.; Arno, Gavin Share Save
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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial Russell, Stephen R.; Drack, Arlene, V; Cideciyan, Artur, V; Jacobson, Samuel G.; Leroy, Bart P.; Van Cauwenbergh, Caroline; Ho, Allen C.; Dumitrescu, Alina, V; Han, Ian C.; Martin, Mitchell; Pfeifer, Wanda L.; Sohn, Elliott H.; Walshire, Jean; Garafalo, Alexandra, V; Krishnan, Arun K.; Powers, Christian A.; Sumaroka, Alexander; Roman, Alejandro J.; Vanhonsebrouck, Eva; Jones, Eltanara; Nerinckx, Fanny; De Zaeytijd, Julie; Collin, Rob W. J.; Hoyng, Carel; Adamson, Peter; Cheetham, Michael E.; Schwartz, Michael R.; den Hollander, Wilhelmina; Asmus, Friedrich; Platenburg, Gerard; Rodman, David; Girach, Aniz Share Save
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